ODCs

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1 OMIM reference -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
11 signs/symptoms

Cystic fibrosis

Encephalopathy due to prosaposin deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CFTR	(0.72)	PSAP

Citations in the biomedical literature:

Cystic fibrosis		Encephalopathy due to prosaposin deficiency
	Synonym(s): - CF - Mucoviscidosis		Synonym(s): - Combined prosaposin deficiency

	Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: young adult Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D003550		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Repeat respiratory infections

Cystic fibrosis		Encephalopathy due to prosaposin deficiency
	Very frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Immunodeficiency / increased susceptibility to infections / recurrent infections - Lung fibrosis - Malabsorption / chronic diarrhea / steatorrhea - Structural anomalies of the liver and the biliary tract - Structural anomalies of the pancreas		Very frequent - Abnormal eye movements / oculomotor disorder - Death in infancy - Dystonia / torticollis / writer's cramp / blepharospasms - Hypotonia - Myoclonus / fasciculations - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Seizures / epilepsy / absences / spasms / status epilepticus - Splenomegaly